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Article

Analysis of Phenotypes Associated with Deficiency of PAX6 Haplotypes in Chinese Aniridia Families.

Current medical science - 1 Aug 2024

Hao Xiao-Lu, Chen Ran, Liu Wei, Hou Bao-Ke, Qu Ling-Hui, Li Zhao-Hui, Wang Da-Jiang, Jin Xin, Huang Hou-Bin

Abstract excerpt

OBJECTIVE: To examine the clinical phenotype and genetic deficiencies present in Chinese aniridia families with PAX6 haplotype deficiency. METHODS: A comprehensive questionnaire and ophthalmological assessments were administered to both affected patients and unaffected relatives. The clinical feature analysis included the evaluation of visual acuity, intraocular pressure, slit-lamp anterior segment examination,...

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Source

Identifiers

PMID: 38967890
DOI: 10.1007/s11596-024-2903-1

Genes

PAX6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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